ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13218G>A (p.Thr4406=)

gnomAD frequency: 0.00001  dbSNP: rs1229448994
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001473322 SCV001677474 likely benign Spastic paraplegia 2023-09-27 criteria provided, single submitter clinical testing

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